Varaico: Literature-Extracted Genetic Variants

PPEF2

68 papers

RefSeq Summary

This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding ...

Pfam Domains

PPP5aa 76–164UCSCPPP5 TPR repeat region

Metallophosaa 173–360UCSCCalcineurin-like phosphoesterase

EF-hand_1aa 656–684UCSCEF hand domain

Gene Aliases

HGNC Name

protein phosphatase with EF-hand domain 2

HGNC Alias Symbol

PPP7CB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006239.3

p.D424E

c.1272C>A

Surrounding Variants

1 paper

NM_006239.3

p.D424E

c.1272C>G

1 paper

NM_006239.3

p.E422K

c.1264G>A

1 paper

NM_006239.3

p.K432K

c.1296G>A

1 paper

NM_006239.3

p.R391Q

c.1172G>A

1 paper

NM_006239.3

p.R388Q

c.1163G>A

1 paper

NM_006239.3

p.L386L

c.1158C>T

1 paper

NM_006239.3

p.S380Y

c.1139C>A

1 paper

NM_006239.3

p.S372S

c.1116C>T

1 paper

NM_006239.3

p.S357L

c.1070C>T

1 paper

NM_006239.3

p.R352H

c.1055G>A

1 paper

NM_006239.3

p.S351I

c.1052G>T

1 paper

NM_006239.3

p.W346*

c.1038G>A